Works matching IS 2054345X AND DT 2023 AND VI 10 AND IP 1
Results: 35
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00256-7
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- Publication type:
- Article
Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00257-6
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- Article
Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.
- Published in:
- 2023
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- Publication type:
- Correction Notice
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00255-8
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- Publication type:
- Article
A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00254-9
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- Article
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00253-w
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- Article
Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00252-x
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- Article
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00251-y
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- Publication type:
- Article
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00250-z
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- Publication type:
- Article
A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00254-9
- By:
- Publication type:
- Article
Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00252-x
- By:
- Publication type:
- Article
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00253-w
- By:
- Publication type:
- Article
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00251-y
- By:
- Publication type:
- Article
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00250-z
- By:
- Publication type:
- Article
X-linked intellectual disability related to a novel variant of KLHL15.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00248-7
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- Publication type:
- Article
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00247-8
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- Publication type:
- Article
Genome-wide association study of preterm birth and gestational age in a Japanese population.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00246-9
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- Publication type:
- Article
Oculofaciocardiodental syndrome caused by a novel BCOR variant.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00244-x
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- Publication type:
- Article
A novel HECW2 variant in an infant with congenital long QT syndrome.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00245-w
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- Publication type:
- Article
A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.
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- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00242-z
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- Publication type:
- Article
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00238-9
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- Publication type:
- Article
A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00243-y
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- Publication type:
- Article
A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00241-0
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- Publication type:
- Article
Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00236-x
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- Publication type:
- Article
Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00240-1
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- Publication type:
- Article
Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00237-w
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- Publication type:
- Article
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00230-3
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- Publication type:
- Article
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00239-8
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- Article
Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals.
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- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-022-00228-3
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- Publication type:
- Article
Design and implementation of a hybrid cloud system for large-scale human genomic research.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00231-2
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- Publication type:
- Article
Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00233-0
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- Publication type:
- Article
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00232-1
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- Publication type:
- Article
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00235-y
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- Publication type:
- Article
SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00234-z
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- Publication type:
- Article
EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00229-w
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- Publication type:
- Article